Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4670032016 | Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4670033014 | Charcot-Marie-Tooth disease type 2T (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4670034015 | Charcot-Marie-Tooth disease type 2T | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4670035019 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10066411000172113 | neuropathie sensitivomotrice héréditaire de type 2T | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10066421000172115 | maladie de Charcot-Marie-Tooth autosomique dominante type 2T | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10066431000172117 | maladie de Charcot-Marie-Tooth axonale autosomique dominante de type 2T | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7361971000172111 | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2T | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7361981000172114 | hereditaire motorische en sensorische neuropathie type 2T | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Charcot-Marie-Tooth disease type 2T (disorder) | Is a | Autosomal recessive Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2T (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type 2T (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2T (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR